Canonical Allele Identifier: CA2499222972

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1072178
• ClinVar RCV Id: RCV001384829
• dbSNP Id: rs2141235124

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432933del , CM000677.2:g.48432933del	GRCh38
NC_000015.9:g.48725130del , CM000677.1:g.48725130del	GRCh37
NC_000015.8:g.46512422del	NCBI36
NG_008805.2:g.217857del , LRG_778:g.217857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6673del	ENSP00000453958.2:p.Tyr2225MetfsTer?
ENST00000674301.2:c.*124del	ENSP00000501333.2:n.*124del
ENST00000682170.1:n.282del
ENST00000316623.10:c.6673del MANE Select	ENSP00000325527.5:p.Tyr2225MetfsTer?
ENST00000674301.1:c.1777del	ENSP00000501333.1:n.1777del
ENST00000316623.9:c.6673del	ENSP00000325527.5:p.Tyr2225MetfsTer?
ENST00000537463.6:c.*2436del	ENSP00000440294.2:n.*2436del
ENST00000559133.5:c.1980del
NM_000138.4:c.6673del , LRG_778t1:c.6673del	NP_000129.3:p.Tyr2225MetfsTer?
NM_000138.5:c.6673del MANE Select	NP_000129.3:p.Tyr2225MetfsTer?